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Seeking Out Good Medical Care

Genetic syndromes, like Down syndrome, are not considered diseases, but the genetic anomalies that cause these syndromes often make individuals vulnerable to certain diseases or other health complications. It is important that families and health care providers remain alert to symptoms, and knowledgeable of treatments to ensure good health early in life, and as their loved ones age.

Examples of Medical Complications

About half of babies born with Down syndrome have congenital heart defects at birth, most commonly atrioventricular septal defects, or AVSDs, which are easily corrected with surgery. In addition to cardiac defects, other health issues include cataracts and other difficulties with vision, gastrointenstinal issues including esophageal or duodenal atresia, sleep apnea, low thyroid function (hypothyroidism), type 1 and type 2 diabetes and other autoimmune diseases. Later in life various neurological conditions may become present including catatonia and dementia. 

As another example, those with DiGeorge syndrome, a condition that results from a missing segment of chromosome 22, are also susceptible to cardiac defects, and may have immune deficiencies, occasional instances of growth hormone deficiency, renal, pulmonary, gastrointestinal (GI), skeletal, and ophthalmologic abnormalities.

Good medical care should ensure that individuals with genetic intellectual disabilies are able to live happy and fulfilled lives. Depending on the resources available in local communities, it is often it is up to parents to ensure that their medical provider has information they need to adequately care for their children. Whenever possible, parents should seek out specialized care for annual or biennial evaluations of their children's health. 

Seeking Out Good Medical Care

The American Academy of Pediatrics has prepared very good guildelines for physicians who care for children with Down syndrome. They also have a guide for families called, "Health Care Information for Families of Children with Down Syndrome" that can be helpful for parents who want to be certain their children are being well cared for. 

Searching the internet for support organizations for various disabilities will usually produce a list of available resources. 


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